Results 131 to 140 of about 29,876 (307)
Torsten Sjögren and Tage Larsson: Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatrica et neurologica scandinavica. Supplementum 113, Volumen 32, Einar Munksgaard Ed. Copenhagen 1957. [PDF]
Mario Cirielli
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Altered CO2 sensitivity of connexin26 mutant hemichannels in vitro [PDF]
Connexin26 (Cx26) mutations underlie human pathologies ranging from hearing loss to keratitis ichthyosis deafness (KID) syndrome. Cx26 hemichannels are directly gated by CO2 and contribute to the chemosensory regulation of breathing.
Cook, Jonathan+3 more
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Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]
Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo+7 more
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Ocular manifestation of Ichthyosis
Ichthyosis is a rare dermato-ocular disease. This study evaluates the presenting ocular signs, symptoms, complications and prognosis of ichthyosis in a case series from Saudi Arabia.A retrospective chart review was performed for 11 patients with ichthyosis who presented to King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia, over the last 20 ...
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Ichthyosis uteri is a rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. Though the condition often is considered as benign, anaplastic and dysplastic changes have been reported.
Sridevi V+3 more
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Neonatal Skin Disorders: A Review of Selected Dermatologic Abnormalities
The skin serves many purposes, acting as a barrier to infection, protecting internal organs, contributing to temperature regulation, storing insulating fats, excreting electrolytes and water, and providing tactile sensory input. This article focuses on a
Banta-Wright, Sandra, Campbell, Juliana
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Collodion Skin in the Neonate due to Lamellar Ichthyosis [PDF]
H. V. L. Finlay, J. P. Bound
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